763718009: myopathie distale avec atteinte initiale des membres supérieurs type finlandais (trouble)

Id Description Lang Type Status Case? Module

1005801000172110 MPD3 - myopathie distale type 3 fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)

3643470012 Finnish upper limb onset distal myopathy en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

3643471011 Finnish upper limb onset distal myopathy (disorder) en Fully specified name Active Entire term case sensitive (core metadata concept) SNOMED CT core

3643472016 Distal myopathy type 3 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

766401000241113 myopathie distale avec atteinte initiale des membres supérieurs type finlandais (trouble) fr Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)

886321000172119 myopathie distale avec atteinte initiale des membres supérieurs type finlandais fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)

3643473014 A rare genetic distal myopathy with characteristics of slowly progressive distal to proximal limb muscle weakness and atrophy and early involvement of thenar and hypothenar muscles. Patients present with clumsiness of the hands and stumbling in the fourth to fifth decade of life, and later develop steppage gait and contractures of the hands. Progressive fatty degeneration affects intrinsic muscles of the hands, gluteus medium and both anterior and posterior compartment muscles of the distal lower extremities, with later involvement of forearm muscles, triceps, infraspinatus and the proximal lower limb muscles. Asymmetry of muscle involvement is common. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Finnish upper limb onset distal myopathy	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	2
Finnish upper limb onset distal myopathy	évolution clinique (attribut)	progressif	true	Inferred relationship	Some	3
Finnish upper limb onset distal myopathy	est un(e) (attribut)	Autosomal dominant hereditary disorder	true	Inferred relationship	Some
Finnish upper limb onset distal myopathy	est un(e) (attribut)	dystrophie musculaire distale	true	Inferred relationship	Some
Finnish upper limb onset distal myopathy	morphologie associée (attribut)	Developmental abnormality	false	Inferred relationship	Some	2
Finnish upper limb onset distal myopathy	survenue (attribut)	congénital	false	Inferred relationship	Some	2
Finnish upper limb onset distal myopathy	localisation d'une constatation (attribut)	structure de muscle squelettique	true	Inferred relationship	Some	2
Finnish upper limb onset distal myopathy	morphologie associée (attribut)	Dystrophy (morphologic abnormality)	true	Inferred relationship	Some	2
Finnish upper limb onset distal myopathy	morphologie associée (attribut)	Dystrophy (morphologic abnormality)	true	Inferred relationship	Some	1
Finnish upper limb onset distal myopathy	survenue (attribut)	congénital	false	Inferred relationship	Some	1
Finnish upper limb onset distal myopathy	localisation d'une constatation (attribut)	structure de muscle squelettique	true	Inferred relationship	Some	1
Finnish upper limb onset distal myopathy	survenue (attribut)	Adulthood (qualifier value)	true	Inferred relationship	Some	1

Inbound Relationships

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Active

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Characteristic

Refinability

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This concept is not in any reference sets

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Id	Description	Lang	Type	Status	Case?	Module
1005801000172110	MPD3 - myopathie distale type 3	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
3643470012	Finnish upper limb onset distal myopathy	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3643471011	Finnish upper limb onset distal myopathy (disorder)	en	Fully specified name	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3643472016	Distal myopathy type 3	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
766401000241113	myopathie distale avec atteinte initiale des membres supérieurs type finlandais (trouble)	fr	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
886321000172119	myopathie distale avec atteinte initiale des membres supérieurs type finlandais	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
3643473014	A rare genetic distal myopathy with characteristics of slowly progressive distal to proximal limb muscle weakness and atrophy and early involvement of thenar and hypothenar muscles. Patients present with clumsiness of the hands and stumbling in the fourth to fifth decade of life, and later develop steppage gait and contractures of the hands. Progressive fatty degeneration affects intrinsic muscles of the hands, gluteus medium and both anterior and posterior compartment muscles of the distal lower extremities, with later involvement of forearm muscles, triceps, infraspinatus and the proximal lower limb muscles. Asymmetry of muscle involvement is common.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core